Results 231 to 240 of about 207,744 (307)

A novel MYO6 variant identified in a Chinese family with autosomal dominant non-syndromic hearing loss. [PDF]

BMC Med Genomics
Wang J, Zhu QW, Cui AM, Lou HQ.
europepmc   +1 more source

The Flail Limb Syndrome

Muscle &Nerve, EarlyView.
ABSTRACT The flail limb syndrome is primarily a lower motor neuron disorder that initially affects proximal arm muscles (flail arm syndrome—FAS) or distal leg muscles (flail leg syndrome—FLS). Both were recognized early on (1886 for FAS and 1918 for FLS) as somewhat distinct from classic amyotrophic lateral sclerosis (ALS).
Mark B. Bromberg
wiley   +1 more source

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

Movement Disorders, EarlyView.
Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond   +10 more
wiley   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Health-related quality of life in people with autosomal dominant polycystic kidney disease: a systematic review. [PDF]

Clin Kidney J
Gittus M, Zhang Y, Harnan S, Sutton A, Fotheringham J, Ong ACM, Mandrik O.   +6 more
europepmc   +1 more source

Depletion of microglial compensation in glial network: Disease‐associated response dynamics in the revised amyloid hypothesis

Neuroprotection, EarlyView.
The critical transition from amyloid pathology to irreversible neuronal loss in Alzheimer's disease hinges on the microglial response. This review aims to systematize the patterns of how microglia react within the glial context. Abstract Microglia mount coordinated, stage‐dependent compensatory programs in response to early amyloid β (Aβ) accumulation ...
Songtao Lei, Zixuan Huang, Wen Wang, Yan Meng   +3 more
wiley   +1 more source

A Novel N-Terminal <i>PRPF6</i> Variant in Autosomal Dominant Retinitis Pigmentosa. [PDF]

Clin Case Rep
Li N, Dang Y.
europepmc   +1 more source